Canonical Allele Identifier: CA382819563

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118474193C>T , CM000673.2:g.118474193C>T	GRCh38
NC_000011.9:g.118344908C>T , CM000673.1:g.118344908C>T	GRCh37
NC_000011.8:g.117850118C>T	NCBI36
NG_027813.1:g.42704C>T , LRG_613:g.42704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3133C>T	ENSP00000432391.3:p.Gln1045Ter
ENST00000710560.1:c.3133C>T	ENSP00000518343.1:p.Gln1045Ter
ENST00000527869.7:c.616C>T	ENSP00000432652.3:p.Gln206Ter
ENST00000533790.3:c.517C>T	ENSP00000436700.3:p.Gln173Ter
ENST00000649690.2:c.841C>T	ENSP00000497372.2:p.Gln281Ter
ENST00000685719.1:c.15C>T
ENST00000691053.1:c.3034C>T	ENSP00000509168.1:p.Gln1012Ter
ENST00000389506.10:c.3034C>T	ENSP00000374157.5:p.Gln1012Ter
ENST00000533790.2:c.286C>T	ENSP00000436700.2:p.Gln96Ter
ENST00000534358.8:c.3034C>T MANE Select	ENSP00000436786.2:p.Gln1012Ter
ENST00000648261.1:c.1804C>T	ENSP00000498126.1:p.Gln602Ter
ENST00000649690.1:c.427C>T	ENSP00000497372.1:p.Gln143Ter
ENST00000649699.1:c.3034C>T	ENSP00000496927.1:p.Gln1012Ter
ENST00000389506.9:c.3034C>T	ENSP00000374157.5:p.Gln1012Ter
ENST00000527869.6:c.367C>T	ENSP00000432652.2:p.Gln123Ter
ENST00000531904.6:c.3133C>T	ENSP00000432391.2:p.Gln1045Ter
ENST00000533790.1:c.268C>T	ENSP00000436700.1:p.Gln90Ter
ENST00000534358.5:c.3034C>T	ENSP00000436786.1:p.Gln1012Ter
NM_001197104.1:c.3034C>T , LRG_613t1:c.3034C>T	NP_001184033.1:p.Gln1012Ter
NM_005933.3:c.3034C>T	NP_005924.2:p.Gln1012Ter
XM_006718839.2:c.517C>T	XP_006718902.2:p.Gln173Ter
XM_011542829.1:c.3133C>T	XP_011541131.1:p.Gln1045Ter
XM_011542830.1:c.3133C>T	XP_011541132.1:p.Gln1045Ter
XM_011542831.1:c.3133C>T	XP_011541133.1:p.Gln1045Ter
XM_011542832.1:c.940C>T	XP_011541134.1:p.Gln314Ter
XM_011542833.1:c.616C>T	XP_011541135.1:p.Gln206Ter
XM_006718839.3:c.517C>T	XP_006718902.2:p.Gln173Ter
XM_011542829.2:c.3133C>T	XP_011541131.1:p.Gln1045Ter
XM_011542830.2:c.3133C>T	XP_011541132.1:p.Gln1045Ter
XM_011542831.2:c.3133C>T	XP_011541133.1:p.Gln1045Ter
XM_011542833.2:c.616C>T	XP_011541135.1:p.Gln206Ter
NM_001197104.2:c.3034C>T MANE Select	NP_001184033.1:p.Gln1012Ter
NM_005933.4:c.3034C>T	NP_005924.2:p.Gln1012Ter